Discovered Gene For Rare Disorder May Save Boy’s Life

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Above: There are about 7,000 people in the United States who have a rare disease. Most are genetic in origin, and about half of all rare diseases affect children.
KPBS science and technology reporter Peggy Pico introduces us to a boy who traveled from the east coast to San Diego to thank the researcher who discovered the cause of his life- threatening genetic disorder.

The problem is, any one of those genes can malfunction in a million different ways, resulting in disabling and sometimes deadly genetic disorders.

It happened to Mason Barto while he developed in the womb. Just one gene didn’t line up right.

The result: A life-threatening rare disorder called Congenital Disorders of Glycosylation (CDG), a disorder that makes it nearly impossible for Mason’s body to maintain enough sugar in his blood to keep his organs functioning.

At age 10, the articulate fifth grader has lived with a tracheotomy, a permanent feeding tube and no hope of recovery since the day he was born.

Mason plays his health problems down. Even though you can hear him breath, he’s learned to talk through his tracheotomy.

“I have low blood sugar and I can’t do a lot. I can’t run for a long time like other people. I have to take sugar drinks five times a day—but it’s cool,” Mason said casually.

But a few months ago, things changed. Mason’s dad recorded video of their son when he found out San Diego researcher Hudson Freeze discovered the gene that caused his CDG.

Tears streamed down Mason’s face as the implications for him and dozens of others with similar disorders became apparent to him.

His mother Mindy Barto said they asked him what he wanted to do.

“He said he wanted to come and meet doctor Freeze and shake his hand—so that’s why we are here in San Diego,” she said.

“We have now set up several specialized centers who will take in samples in from around the world of individuals with very rare genetic diseases. We use state of the art genome sequencing technologies that we believe we can industrialize the elucidation of the genetic cause of rare genetic disorders.”

In the meantime, Mason took advantage of his trip to Southern California. With a breathy smile he bragged about his recent adventures.

“We went to Legoland, Disneyland, the zoo and Sea World,” he exclaimed.

When asked if there was anything else he wanted to tell the world, he said he lives by his best friend’s motto: to take a chance.

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